Cell-Free DNA in Dermatology Research.

Cell-Free DNA in Dermatology Research.
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DOI:
10.1016/j.jid.2022.02.021
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发表时间:
2022-06
影响因子:
6.5
通讯作者:
Polsky, David
Polsky, David
中科院分区:
医学1区
文献类型:
--
作者:
Wiggins, Jennifer M.;Ali, Saim;Polsky, David

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在各种疾病,特别是癌症中,游离DNA (cfDNA)作为疾病预后的标志或促进治疗靶点的检测已被广泛研究。在皮肤病学中,大多数研究都集中在黑色素瘤上;其他皮肤疾病,如血管畸形和牛皮癣也进行了检查。起源组织特有的遗传改变,如序列变异、拷贝数改变、染色体重排、差异DNA甲基化模式和片段化模式,可以在循环中识别,提供有关患者疾病状况的信息。这些改变可以通过基于pcr的方法或下一代测序来检测,这取决于感兴趣的目标。在本文中,我们讨论了cfDNA的起源,最常见的检测方法,目前评估cfDNA作为生物标志物的研究及其在黑色素瘤和其他皮肤疾病中的潜在临床应用。此外,我们还提供了在血液处理和DNA提取过程中需要考虑的重要因素,以及每个分析的局限性。
In various diseases, particularly cancer, cell-free DNA (cfDNA) has been widely studied as a marker of disease prognosis or to facilitate detection of therapeutic targets. In dermatology, most studies have focused on melanoma; other skin diseases such as vascular malformations and psoriasis have also been examined. Genetic alterations unique to the tissue of origin such as sequence variations, copy number alterations, chromosomal rearrangements, differential DNA methylation patterns and fragmentation patterns can be identified in circulation providing information on patient disease status. These alterations can be detected either by PCR-based methods or next generation sequencing depending on the target of interest. In this article we discuss the origins of cfDNA, the most common methods of detection, current studies assessing cfDNA as a biomarker and its potential clinical applications in melanoma and other skin diseases. Additionally, we provide important factors to consider during blood processing and DNA extraction as well as limitations for each assay.
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